From: Familial paragangliomas
Which disease gene carrier has to be investigated periodically and when? |
---|
   • Carriers of a hereditary mutation of the PGL1 or PGL2 gene only if they have inherited the disease gene from their father (the paternal PGL disease gene) (thus in SDHD and PGL-2) |
   • all carriers of a PGL 3 or PGL 4 disease gene, irrespective of the gender of the genetically affected parent |
Preferably, DNA analysis should be performed at an age between 5 and 10 years. This is the age at which periodical screening should have been started. |
How frequently does periodical examination have to be performed? |
In cases where tumours grow slowly and there are no symptoms or signs of expression of the disease, every three years: |
   • 24-hour urine on metabolites of noradrenaline and adrenaline |
   • ultrasound of the neck |
   • duplex examination of blood vessels in the neck |
   • MRI from the age of 10 onwards |
If there are symptoms or signs of expression of the disease: |
Consider surgical removal and in any case every year: |
   • 24-hour urine on metabolites of noradrenaline and adrenaline |
   • ultrasound of the neck |
   • duplex examination of blood vessels in the neck |
   • MRI from the age of 10 onwards |